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USPSTF, ASCO Issue More Guidance on Genetic Testing Based on Family History

Surabhi Dangi-Garimella, PhD
Published: Wednesday, Jun 11, 2014
Ellen T. Matloff, MS, CGC

Ellen T. Matloff, MS, CGC

Oncology practitioners now have several resources to consult for advice on genetic testing for their patients following the US Preventive Services Task Force (USPSTF) December 2013 update of its 2005 BRCA recommendations, plus new recommendations from the American Socieity of Clinical Oncology (ASCO) announced in February and published in the Journal of Clinical Oncology.

The USPSTF recommends that women whose family members have been diagnosed with breast, ovarian, tubal, or peritoneal cancers be screened to identify a family history that may be associated with an increased risk of potentially harmful mutations in BRCA1 or BRCA2.

Women with positive screening results are advised to undergo genetic testing, but only following genetic counseling. Further, women who lack a family history of an increased risk for BRCA mutations are specifically advised against genetic counseling or BRCA testing (Figure on Page 2).1

The current task force recommendations are aimed at women previously undiagnosed with breast or ovarian cancer, but with a familial history. Ellen T. Matloff, MS, CGC, director of Cancer Genetic Counseling at the Yale Cancer Center in New Haven, Connecticut, believes that, “These prevention guidelines should include patients, male and female, who are cancer survivors and would like to prevent the development of a future primary cancer.”

Numerous studies have documented an increased risk of cancer among men with BRCA1/2 mutations. A study conducted among male breast cancer patients in Canada found a strong association between familial history (at least one first- or second-degree relative with breast cancer), BRCA2 mutation (2 of 14 pa - tients), and a previous history of other cancers prior to the breast cancer diagnosis,2 whereas another study of Ashkenazi men found an increased risk of prostate cancer in BRCA2 mutation carriers.3 A recent study recognized poor overall survival in BRCA2 mutationcarrying prostate cancer patients with multiple breast cancer relatives.4

Working in collaboration with the nonprofit organization Facing Our Risk of Cancer Empowered (FORCE), Matloff raised concerns and made suggestions to the USPSTF regarding the reach of the current guidelines. However, the task force responded that recommendations for cancer survivors, although important, would encompass disease management, which falls outside of the scope of their current recommendations.5

“The guidelines stress throughout that women should have genetic counseling and testing,” continued Matloff. “Unfortunately, this perpetuates a pervasive and dangerous myth in the patient, lay, and medical communities that a family history of breast and ovarian cancer somehow applies only to women.”

“A male who is a BRCA carrier may have daughters, granddaughters, and other female relatives at risk who can be helped by identifying the BRCA mutation in the family. We should not discriminate against males and should offer them the genetic counseling and testing services available to women.”

ASCO Recommendations

ASCO’s recommendations for hereditary risk assessment are the first to focus on family history–taking specifically in oncology to help determine patients’ personal genetic risk for cancer, the organization notes. The statement, developed by ASCO’s Genetics Subcommittee, is aimed at helping oncology providers to6:
  • Define a minimum cancer family history
  • Provide guidance regarding interpretation and next steps
  • Identify current barriers to accurate family history–taking and interpretation
For patients with cancer, ASCO recommends determining, at a minimum, whether there is any history of cancer in first- and second- degree relatives. First-degree relatives include parents, children, and full siblings. Second-degree relatives include grandparents, aunts/ uncles, nieces/nephews, grandchildren, and half-siblings. For each relative with cancer, ASCO recommends recording age at diagnosis and type of primary cancer(s).

Patients should be asked specifically if there is a known hereditary cancer predisposition syndrome, if there has been prior genetic testing, and for any information regarding ethnicmulity that may be relevant, since a lower threshold for testing could be warranted in some situations. ASCO further recommends that the family history be recorded at a patient’s initial visit to the oncology provider, and be reassessed if new information about family members diagnosed with cancer becomes available.


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